Canonical Allele Identifier: CA337822386
Gene: B3GALT6 HGNC NCBI

Linked Data

gnomAD v4: 1-1232373-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232373G>T , CM000663.2:g.1232373G>T GRCh38
NC_000001.10:g.1167753G>T , CM000663.1:g.1167753G>T GRCh37
NC_000001.9:g.1157616G>T NCBI36
NG_030007.1:g.4695C>A
NG_033265.1:g.5125G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.95G>T MANE Select ENSP00000368496.2:p.Cys32Phe
ENST00000379198.3:c.95G>T ENSP00000368496.2:p.Cys32Phe
NM_080605.3:c.95G>T NP_542172.2:p.Cys32Phe
NM_080605.4:c.95G>T MANE Select NP_542172.2:p.Cys32Phe